Canonical Allele Identifier: CA348401252

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183714C>A (hg19) ; chr2:g.127426138C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426138C>A , CM000664.2:g.127426138C>A	GRCh38
NC_000002.11:g.128183714C>A , CM000664.1:g.128183714C>A	GRCh37
NC_000002.10:g.127900184C>A	NCBI36
NG_016323.1:g.12719C>A , LRG_599:g.12719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.589C>A MANE Select	ENSP00000234071.4:p.Leu197Met
ENST00000234071.7:c.589C>A	ENSP00000234071.3:p.Leu197Met
ENST00000402125.2:c.121-2219C>A
ENST00000409048.1:c.691C>A	ENSP00000386679.1:p.Leu231Met
ENST00000464089.1:n.175C>A
NM_000312.3:c.589C>A , LRG_599t1:c.589C>A	NP_000303.1:p.Leu197Met
XM_005263715.3:c.772C>A	XP_005263772.1:p.Leu258Met
XM_005263716.3:c.754C>A	XP_005263773.1:p.Leu252Met
XM_005263717.3:c.652C>A	XP_005263774.1:p.Leu218Met
XM_005263717.4:c.652C>A	XP_005263774.1:p.Leu218Met
XM_017004505.1:c.832C>A	XP_016859994.1:p.Leu278Met
XM_024453002.1:c.934C>A	XP_024308770.1:p.Leu312Met
XM_024453003.1:c.874C>A	XP_024308771.1:p.Leu292Met
XM_024453004.1:c.772C>A	XP_024308772.1:p.Leu258Met
XM_024453005.1:c.754C>A	XP_024308773.1:p.Leu252Met
XM_024453006.1:c.691C>A	XP_024308774.1:p.Leu231Met
XR_923313.2:n.4447G>T
NM_000312.4:c.589C>A MANE Select	NP_000303.1:p.Leu197Met
NM_001375602.1:c.772C>A	NP_001362531.1:p.Leu258Met
NM_001375603.1:c.754C>A	NP_001362532.1:p.Leu252Met
NM_001375604.1:c.652C>A	NP_001362533.1:p.Leu218Met
NM_001375605.1:c.691C>A	NP_001362534.1:p.Leu231Met
NM_001375606.1:c.757C>A	NP_001362535.1:p.Leu253Met
NM_001375607.1:c.775C>A	NP_001362536.1:p.Leu259Met
NM_001375608.1:c.532C>A	NP_001362537.1:p.Leu178Met
NM_001375609.1:c.565C>A	NP_001362538.1:p.Leu189Met
NM_001375610.1:c.583C>A	NP_001362539.1:p.Leu195Met
NM_001375611.1:c.589C>A	NP_001362540.1:p.Leu197Met
NM_001375613.1:c.589C>A	NP_001362542.1:p.Leu197Met